E79G (p.Glu79Gly) variant of MECOM (Q03112)
E79G (p.Glu79Gly) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
E79G (p.Glu79Gly) variant details
- p.Glu79Gly
- ExAC rs767236017
- gnomAD rs767236017
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 23.60
- PolyPhen-2 0.43
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)